A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272811



Internal ID22183655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:114961806..115020175hg38UCSC Ensembl
Outerchr4:115882962..115941331hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3858370
hg1958370
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205765
Supporting Variants
SamplesHG00731
Known GenesNDST4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272811
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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